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The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function

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dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor.author García-Llorca, Andrea
dc.contributor.author Gudmundsdottir Aspelund, Snaefridur
dc.contributor.author Ogmundsdottir, Margret H
dc.contributor.author Steingrimsson, Eirikur
dc.contributor.author Eysteinsson, Thor
dc.date.accessioned 2020-02-10T13:49:58Z
dc.date.available 2020-02-10T13:49:58Z
dc.date.issued 2019-10-28
dc.identifier.citation García-Llorca, A., Aspelund, S.G., Ogmundsdottir, M.H. et al. The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function. Sci Rep 9, 15386 (2019). https://doi.org/10.1038/s41598-019-51819-0
dc.identifier.issn 2045-2322
dc.identifier.uri https://hdl.handle.net/20.500.11815/1524
dc.description Publisher's version (útgefin grein).
dc.description.abstract Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. We examined retinal and RPE structure and function in 3 month old mice homo- or heterozygous or compound heterozygous for different Mitf mutations (Mitfmi-vga9/+, Mitfmi-enu22(398)/Mitfmi-enu22(398), MitfMi-Wh/+ and MitfMi-Wh/Mitfmi) which all have normal eye size with apparently normal eye pigmentation. Here we show that their vision and retinal structures are differentially affected. Hypopigmentation was evident in all the mutants while bright-field fundus images showed yellow spots with non-pigmented areas in the Mitfmi-vga9/+ mice. MitfMi-Wh/+ and MitfMi-Wh/Mitfmi mice showed large non-pigmented areas. Fluorescent angiography (FA) of all mutants except Mitfmi-vga9/+ mice showed hyperfluorescent areas, whereas FA from both Mitf-Mi-Wh/+ and MitfMi-Wh/Mitfmi mice showed reduced capillary network as well as hyperfluorescent areas. Electroretinogram (ERG) recordings show that MitfMi-Wh/+ and MitfMi-Wh/Mitfmi mice are severely impaired functionally whereas the scotopic and photopic ERG responses of Mitfmi-vga9/+ and Mitfmi-enu22(398)/Mitfmi-enu22(398) mice were not significantly different from wild type mice. Histological sections demonstrated that the outer retinal layers were absent from the MitfMi-Wh/+ and MitfMi-Wh/Mitfmi blind mutants. Our results show that Mitf mutations affect eye function, even in the heterozygous condition and that the alleles studied can be arranged in an allelic series in this respect.
dc.description.sponsorship The Icelandic Research Fund, The National University Hospital Research Fund, The Helga Jónsdóttir and Sigurliði Kristjánsson Memorial Fund.
dc.format.extent 15386
dc.language.iso en
dc.publisher Springer Science and Business Media LLC
dc.relation.ispartofseries Scientific Reports;9(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Molecular medicine
dc.subject Sensory processing
dc.subject Sameindafræði
dc.subject Stökkbreytingar
dc.subject Augu
dc.title The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function
dc.type info:eu-repo/semantics/article
dcterms.license Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. Te images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.description.version Peer Reviewed
dc.identifier.journal Scientific Reports
dc.identifier.doi 10.1038/s41598-019-51819-0
dc.contributor.department Læknadeild (HÍ)
dc.contributor.department Faculty of Medicine (UI)
dc.contributor.department Lífeðlisfræðistofnun (HÍ)
dc.contributor.department Institute of Physiology (UI)
dc.contributor.department Lífvísindasetur (HÍ)
dc.contributor.department Biomedical Center (UI)
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)

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